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PIK3CA c.3130_3131insTCT ;(p.N1044delinsIY)
Variant ID: 3-178952075-A-ATCT
NM_006218.2(
PIK3CA
):c.3130_3131insTCT;(p.N1044delinsIY)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
European Journal Of Endocrinology
Leiter, Sarah M SM; Parker, Victoria E R VER; Welters, Alena A; Knox, Rachel R; Rocha, Nuno N; Clark, Graeme G; Payne, Felicity F; Lotta, Luca L; Harris, Julie J; Guerrero-Fernández, Julio J; González-Casado, Isabel I; García-Miñaur, Sixto S; Gordo, Gema G; Wareham, Nick N; Martínez-Glez, Víctor V; Allison, Michael M; O'Rahilly, Stephen S; Barroso, Inês I; Meissner, Thomas T; Davies, Susan S; Hussain, Khalid K; Temple, Karen K; Barreda-Bonis, Ana-Coral AC; Kummer, Sebastian S; Semple, Robert K RK
Publication Date: 2017-08
Variant appearance in text: PIK3CA: N1044delinsIY
PubMed Link:
28566443
Variant Present in the following documents:
Main text
eje-177-175.pdf
View BVdb publication page